A5089480813- Cancer-related molecular mechanisms research
- Atherosclerosis and Cardiovascular Diseases
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Drug Transport and Resistance Mechanisms
- Cardiac electrophysiology and arrhythmias
- Immune cells in cancer
- Autism Spectrum Disorder Research
- RNA regulation and disease
- Ion channel regulation and function
- Immune Response and Inflammation
- RNA Research and Splicing
- Genetic Associations and Epidemiology
- GABA and Rice Research
- Cardiomyopathy and Myosin Studies
- Bioinformatics and Genomic Networks
- Cardiovascular Function and Risk Factors
Cleveland Clinic Lerner College of Medicine
2019-2022
Case Western Reserve University
2019-2022
University School
2020-2022
Seoul National University
2017-2018
Rett syndrome (RTT) and epileptic encephalopathy (EE) are devastating neurodevelopmental disorders with distinct diagnostic criteria. However, highly heterogeneous overlapping clinical features often allocate patients into the boundary of two conditions, complicating accurate diagnosis appropriate medical interventions. Therefore, we investigated specific molecular mechanism that allows an understanding pathogenesis relationship these conditions.We screened novel genetic factors from 34...
Bile acids (BAs) control metabolism and inflammation by interacting with several receptors. Here, we report that intravenous infusion of taurodeoxycholate (TDCA) decreases serum pro-inflammatory cytokines, normalizes hypotension, protects against renal injury, prolongs mouse survival during sepsis. TDCA increases the number granulocytic myeloid-derived suppressor cells (MDSC-LT) distinctive from MDSCs obtained without treatment (MDSC-L) in spleen septic mice. FACS-sorted MDSC-LT suppress...
Brugada syndrome (BrS) is a fatal arrhythmia that causes an estimated 4% of all sudden death in high-incidence areas. SCN5A encodes cardiac sodium channel Na V 1.5 and 25 to 30% BrS cases. Here, we report generation knock-in (KI) mouse model ( Scn5a G1746R/+ ). Heterozygous KI mice recapitulated some the clinical features BrS, including ST segment abnormality (a prominent J wave) on electrocardiograms development spontaneous ventricular tachyarrhythmias (VTs), seizures, death. VTs were...
Background Epistasis describes how gene-gene interactions affect phenotypes, and could have a profound impact on human diseases such as coronary artery disease (CAD). The goal of this study was to identify in CAD using an easily generalizable multi-stage approach. Methods Results Our forward genetic approach consists multiple steps that combine statistical functional approaches, analyze information from global gene expression profiling, interactions, robustly interactions. Global profiling...
Each gene typically has multiple alternatively spliced transcripts. Different transcripts are assumed to play a similar biological role; however, some may simply lose their function due loss of important functional domains. Here, we show that two different lncRNA ANRIL associated with coronary artery disease (CAD) antagonizing roles against each other. We previously reported DQ485454, the short transcript, is downregulated in arteries from CAD patients, and reduces monocyte adhesion...